Mutation in Medical News

Abnormal Brain Circuits May Prevent Movement Disorder

... Most people who carry a genetic mutation for a movement disorder called dystonia will ... has puzzled scientists since the first genetic mutation was identified in the 1990s. Now, scientists at ... for Medical Research have figured out why these mutation carriers are protected from symptoms of the ...

New drug for children with high-risk leukemia

... relapse." The first researchers to discover a mutation of the JAK2 protein in patients with Down ... syndrome According to Dr. Izraeli, a similar mutation of the JAK2 in Down syndrome and leukemia causes ... of blood. This discovery of a similar mutation in a subset of pediatric leukemia cases may ...

Study Shows a Link Between Schizophrenia & Genetic Mutations

... S. Sommer, MD, PhD, with the mission of providing mutation Expert-based Diagnosis ("MED") to support the ... analysis of the patient's genome ("omics"). The mutation experts at MEDomics provide unparalleled quality ... Kelly Gonzalez and Bill Scaringe, discovered mutation showers. ...

Catastrophic Epilepsy Caused by Defect in One Gene

... Mouse study led to discovery of mutation and could advance treatments WEDNESDAY, July 8 (HealthDay News) -- A mutation in a single gene causes catastrophic epilepsy, ... disorder." Noebels and his team found that a mutation on a gene called Aristaless-related homeobox ...

Clarient Launches New Gene Mutation Test to Help Select Therapy for Non-Small Cell Lung Cancer

... Epidermal Growth Factor Receptor mutation Test May Be Key To Identifying Patient Response ... today announced the launch of a new gene mutation test that can help physicians select the proper ... physicians and their patients. "Our new EGFR mutation test can be used as a predictive molecular ...

Ovarian Cancer Breakthrough Heralds New Era of Treatment

... granulosa cell tumors. The culprit is a single mutation out of 3 billion nucleotide pairs that make up the genetic code of the tumor. The mutation is present in every granulosa cell tumor, a rare ... cell tumors, the precise identification of the mutation may help in developing new, badly needed ...

Quest Diagnostics Introduces First Comprehensive Laboratory Test To Analyze KRAS, NRAS, and BRAF Gene Mutations in Reflex Testing Service

... recommended by ASCO's PCO), and recommended RAS mutation testing include KRAS and NRAS encompassing codon ... with KRAS followed by NRAS and BRAF . If a mutation is identified before the entire series is ... patient is only likely to experience one mutation in either KRAS, NRAS and BRAF , combined ...

Findings in Epilepsy Gene in Animals May Guide Treatment Directions for Infants

... found that half of the female mice carrying the mutation also developed seizures. Because the mutation occurs on the X chromosome, it was expected that ... parents who already have a child with an Arx mutation and are contemplating having another child. ...

Findings in epilepsy gene in animals may guide treatment directions for infants

... found that half of the female mice carrying the mutation also developed seizures. Because the mutation occurs on the X chromosome, it was expected that ... parents who already have a child with an Arx mutation and are contemplating having another child. ...

The vulnerable cancer cell

... deemed "untouchable" due to the type of genetic mutation they contain. These studies are beginning to ... can (and should) be launched when a new kinase mutation is discovered in a subset of human cancers." ... two different strains of yeast may each harbor a mutation that is not lethal on its own. But when both ...

Should parents share the results of BRCA1/2 genetic testing with their children?

... know that many people who carry the BRCA1/2 gene mutation share their genetic test results with their ... results. Not surprising, those without a BRCA1/2 mutation were more likely to communicate test results than ... (younger children and those of parents with a mutation or a variant of uncertain significance). "Many ...

A surprise 'spark' for pre-cancerous colon polyps

... be developed. The research centered on the mutation of a tumor-suppressor gene called APC a mutation previously found to be present in 85 percent of ... want to know what happens immediately following mutation of the APC ...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

... and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new ... In "Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion,(2)" ... lead investigator of the study. "Comprehensive mutation analysis using DNA sequencing and exon ...

First noninvasive technique to accurately predict mutations in human brain tumors

... able to accurately predict the specific genetic mutation that caused brain cancer in a group of patients ... using one of two laboratory tests to see if the mutation is present. In this study we've done this ... technique, can accurately predict the type of mutation of a human tumor." A particular MRI technique, ...

Genetic source of rare childhood cancer found; gene is implicated in other cancers

... blastoma (PPB) are born with a deleterious mutation in DICER1, a master controller gene that helps ... one or more cells in the lung acquire a harmful mutation in their functional copy of the DICER1 gene. ... Hill and Dr. Goodfellow uncovered an important mutation and have begun to understand the cellular mix-up ...

LSUHSC research shows fish oil protects against diseases like Parkinson's

... the misfolding of a protein resulting from a gene mutation in neurodegenerative diseases like Parkinson's ... and his colleagues developed a cell model with a mutation of the Ataxin-1 gene. The defective Ataxin-1 gene ... patients with disorders characterized by this mutation like Parkinson's, Retinitis Pigmentosa and some ...

Erbitux May Help Some With Colorectal Cancer

... agreed that people should be tested for the KRAS mutation before undergoing Erbitux treatment. Previous ... year, also showed the significance of the KRAS mutation in the effectiveness of Erbitux. Since then, ... increasingly ordering genetic tests to detect the mutation in tumor cells before beginning Erbitux, and the ...

PGD Technology Offers More Than Designer Babies

... and other single gene defects where the DNA mutation is limited to a specific location on a gene, PGD ... mutation. In circumstances where the specific mutation cannot be identified, genetic markers located near the mutation of interest can be used to identify affected ...

JCI table of contents: March 23, 2009

... The Netherlands, have now identified a new gene mutation in a family with hypomagnesemia, providing new ... that regulate Mg2+ levels. In the study, a mutation in the KCNA1 gene, which makes a protein known as ... the disease. Detailed analysis revealed that the mutation generated a nonfunctional Kv1.1 protein and that ...

First Treatment for Muscular Dystrophy in Sight: Scientists Harness Exon-Skipping in Large Animal to Successfully Treat Duchenne Muscular Dystrophy

... lethal genetic disorders, is an X-linked genetic mutation that causes an inability of the body's cells to ... creation of dystrophin. Because the gene's mutation could affect any of its 79 exons and sometimes ... muscular dystrophy patients, including the mutation found in dogs. "This trial makes the ...

First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping

... lethal genetic disorders, is an X-linked genetic mutation that causes an inability of the body's cells to ... creation of dystrophin. Because the gene's mutation could affect any of its 79 exons and sometimes ... muscular dystrophy patients, including the mutation found in dogs. "This trial makes the ...

Mutation of BRCA gene influences women's views of preventive mastectomy

... management for women with a known deleterious mutation in either the BRCA1 or BRCA2 genes has included ... of the women who tested positive for a BRCA mutation felt that preventive mastectomy was the most ... none of the women who tested positive for a BRCA mutation and 5.4 percent of BRCA negative women felt that ...

Mutant rats offer clues to medical mystery

... they have found that common rats with a genetic mutation have developed a resistance to rat poison, aka ... news for the rats, but it comes at a price. The mutation also leaves them susceptible to arterial ... the poison would simply bleed to death. But a mutation in the gene Vkorc1 effectively blocks that ...

Gene Mutation Tied to Majority of Cases of Mental Retardation

... mental retardation -- appear to have a genetic mutation that may contribute to the condition, new research finds. What's unusual about the mutation is that it occurs during development of the child ... but you don't find in the parents," he said. "The mutation arises in the development of the kid." The ...

The Bachmann-Strauss Dystonia & Parkinson Foundation: New Study Identifies Gene Mutations as Cause of Dystonia in Amish-Mennonite Families

... in Amish-Mennonite families and cited a second mutation in a non-Mennonite family showing that THAP1 ... in addition to this "transcription factor", a mutation that impairs DNA binding could upset that balance ... but, unlike DYT1, people who have the DYT6 mutation are more likely to have problems in the lower ...

Oncogene inhibits tumor suppressor to promote cancer: Study links B-RAF and LKB1

... used malignant melanoma cells that often have a mutation called "V600E" in the RAF protein B-RAF. The ... found that melanoma cells with the B-RAF V600E mutation had impaired AMPK activation and that inhibition ... conditions of energy stress." Given that B-RAF mutation and loss of LKB1 are associated with multiple ...

Gene mutations increase risk for aggressive prostate cancer

... than people in the general population to carry a mutation of any kind in the BRCA1 or BRCA2 genes. The ... 3.2 times more likely to carry the BRCA2 gene mutation than were men in the control group. Carriers of the BRCA1-185delAG mutation were also at increased risk of having an ...

Also in the Jan. 27 JNCI

... Germ-line mutation Associated with Multi-Nodular Goiter and Papillary Thyroid Cancer A germ-line mutation in the gene that encodes thyroid transcription ... of the 20 MNG/PTC patients carried a single point mutation in the TITF-1/NKX2.1 gene, including two ...

60 Million Worldwide Carry Heart Disease Mutation

... -- About 60 million people worldwide carry a gene mutation that almost always causes heart disease, but the mutation is most common among people in India, according ... said the odds ratio for people with the MYBPC3 mutation is almost off the scale, 7:0. People with ...

Gene Variant May Hike Women's Risk of Alzheimer's

... Alzheimer's." Although the presence of the mutation offers strong evidence of a heightened risk, ... about 10 percent of those aged 65 or over. A mutation in the APOE 4 gene is the only genetic risk ... uncovered a strong association between a mutation on the PCDH11X gene and Alzheimer's disease. ...

Fast Heart Rate Warns of Obesity, Diabetes

... few individuals from heart disease -- a genetic mutation that seems to reduce blood levels of the fats called triglycerides. The mutation was found in members of the Old Order Amish ... thus reduce coronary risk, Pollin said. The mutation has not been found outside the Amish community, ...

UBC researchers discover gene mutation that causes eye cancer

... British Columbia geneticist has discovered a gene mutation that can cause the most common eye cancer - uveal ... a team of researchers, have discovered a genetic mutation in a gene called GNAQ that could be responsible ... findings led us to the discovery that a genetic mutation of the GNAQ gene causes uveal melanoma." Uveal ...

Body clock linked to diabetes and high blood sugar in new study

... diseases. The new study shows that a mutation called rs1387153, near a gene called MTNR1B, is ... and darkness. The discovery of the rs1387153 mutation provides evidence that high blood sugar and ... colleagues. In May 2008 they identified a genetic mutation that can raise the amount of sugar in a person's ...

Gene Mutation May Cause Some Cases of Seasonal Affective Disorder

... Provencio said. "So it could be that this mutation could allow a way of predicting patients that may ... concluded that someone with two copies of the mutation was five times more likely to develop SAD, ... alertness and sleep, Provencio said. A mutation of the melanopsin gene may cause a change in ...

Mutant Mouse Gene Offers Clues to Hearing Loss

... FRIDAY, Oct. 31 (HealthDay News) -- A mutation in mice that mimics progressive hearing loss in ... researchers. They found that mice with a mutation in a gene called Oblivion had problems with the ... were damaged at birth. "When we mapped the mutation to the mouse genome, we quickly found a probable ...

Also in the Oct. 28 JNCI

... Skewed X Inactivation in BRCA1 mutation Carriers One X chromosome is more frequently ... control subjects. The trend was strongest in mutation carriers who did not have breast or ovarian ... skewed X inactivation may be exacerbated in BRCA1 mutation carriers due to BRCA1 mutationrelated ...

Gene Plays Key Role in Clubfoot

... analysis, the study authors concluded that a mutation in a gene called PITX1 -- which is critical for ... limbs -- was responsible for the condition. The mutation was found in all 13 affected family members and ... this report is the first evidence for PITX1 mutation in human disease," Dr. Christina Gurnett, an ...

Key to treating cancer may be finding its original cell

... to cancer formation, the cell type in which a mutation happens is as important as the mutation itself. Although stem cells that lack patched ... enough to cause cancer," Wechsler-Reya said. "The mutation has to happen in the right cell type at the right ...

Inherited form of hearing loss stems from gene mutation

... play a role, they were able to identify one gene mutation that explains a previously unknown form of ... France and Germany report they have identified a mutation in a gene, SLC17A8, that accounts for a form of ... in life. The researchers show that the mutation accounts for hearing loss in the Phalin family ...

New Alzheimer's predictors advance earlier detection

... 4 group. Presentation # HT-3577 Genetic mutation Linked to a More Abundant Form of Alzheimer's ... CT NYU researchers found that a specific gene mutation previously associated with an increase in ... human types of tau while expressing the gene mutation showed a significant increase in the harmful form ...